Nilufer Ertekin-Taner, MD, PhD

Accepting PhD Students

  • 5239 Citations
  • 33 Scopus h-Index
19962019
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Research Output 1996 2019

  • 5239 Citations
  • 33 Scopus h-Index
  • 103 Article
  • 3 Chapter
  • 3 Comment/debate
  • 1 Letter
2019

Effect of age, ethnicity, sex, cognitive status and APOE genotype on amyloid load and the threshold for amyloid positivity

Duara, R., Loewenstein, D. A., Lizarraga, G., Adjouadi, M., Barker, W. W., Greig-Custo, M. T., Rosselli, M., Penate, A., Shea, Y. F., Behar, R., Ollarves, A., Robayo, C., Hanson, K., Marsiske, M., Burke, S., Taner, N., Vaillancourt, D., De Santi, S., Golde, T. & ST, D. K., Jan 1 2019, In : NeuroImage: Clinical. 22, 101800.

Research output: Contribution to journalArticle

Open Access
Amyloid
Genotype
Hispanic Americans
Positron-Emission Tomography
Dementia
1 Citation (Scopus)

Ethnoracial differences in Alzheimer's disease from the FLorida Autopsied Multi-Ethnic (FLAME)cohort

Santos, O. A., Pedraza, O. D., Lucas, J. A., Duara, R., Greig-Custo, M. T., Hanna Al-Shaikh, F. S., Liesinger, A. M., Bieniek, K. F., Hinkle, K. M., Lesser, E. R., Crook, J., Carrasquillo, M. M., Ross, O. A., Taner, N., Graff Radford, N. R., Dickson, D. W. & Murray, M. E., May 1 2019, In : Alzheimer's and Dementia. 15, 5, p. 635-643 9 p.

Research output: Contribution to journalArticle

Open Access
Hispanic Americans
Alzheimer Disease
Sclerosis
Age of Onset
Lewy Body Disease
35 Citations (Scopus)

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Alzheimer Disease Genetics Consortium (ADGC), The European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE), & Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES), Mar 1 2019, In : Nature Genetics. 51, 3, p. 414-430 17 p.

Research output: Contribution to journalArticle

Meta-Analysis
Immunity
Alzheimer Disease
Lipids
Serum Amyloid A Protein
5 Citations (Scopus)

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

Pottier, C., Ren, Y., Perkerson, R. B., Baker, M., Jenkins, G. D., Van Blitterswijk, M., DeJesus-Hernandez, M., van Rooij, J. G. J., Murray, M. E., Christopher, E., McDonnell, S. K., Fogarty, Z., Batzler, A., Tian, S., Vicente, C. T., Matchett, B., Karydas, A. M., Hsiung, G. Y. R., Seelaar, H., Mol, M. O. & 85 others, Finger, E. C., Graff, C., Öijerstedt, L., Neumann, M., Heutink, P., Synofzik, M., Wilke, C., Prudlo, J., Rizzu, P., Simon-Sanchez, J., Edbauer, D., Roeber, S., Diehl-Schmid, J., Evers, B. M., King, A., Mesulam, M. M., Weintraub, S., Geula, C., Bieniek, K. F., Petrucelli, L., Ahern, G. L., Reiman, E. M., Woodruff, B. K., Caselli, R. J., Huey, E. D., Farlow, M. R., Grafman, J., Mead, S., Grinberg, L. T., Spina, S., Grossman, M., Irwin, D. J., Lee, E. B., Suh, E. R., Snowden, J., Mann, D., Taner, N., Uitti, R. J., Wszolek, Z. K., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C., Hodges, J. R., Piguet, O., Geier, E. G., Yokoyama, J. S., Rissman, R. A., Rogaeva, E., Keith, J., Zinman, L., Tartaglia, M. C., Cairns, N. J., Cruchaga, C., Ghetti, B., Kofler, J., Lopez, O. L., Beach, T. G., Arzberger, T., Herms, J., Honig, L. S., Vonsattel, J. P., Halliday, G. M., Kwok, J. B., White, C. L., Gearing, M., Glass, J., Rollinson, S., Pickering-Brown, S., Rohrer, J. D., Trojanowski, J. Q., Van Deerlin, V., Bigio, E. H., Troakes, C., Al-Sarraj, S., Asmann, Y., Miller, B. L., Graff Radford, N. R., Boeve, B. F., Seeley, W. W., Mackenzie, I. R. A., van Swieten, J. C., Dickson, D. W., Biernacka, J. M. & Rademakers, R. V., Jan 1 2019, In : Acta neuropathologica.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Frontotemporal Dementia
Genome
Genes
Mutation

Potential influence of IDH1 mutation and MGMT gene promoter methylation on glioma-related preoperative seizures and postoperative seizure control

Feyissa, A., Worrell, G. A., Tatum, W. O., Chaichana, K. L., Jentoft, M. E., Guerrero Cazares, H., Taner, N., Rosenfeld, S., ReFaey, K. & Quinones-Hinojosa, A., Jul 1 2019, In : Seizure. 69, p. 283-289 7 p.

Research output: Contribution to journalArticle

Glioma
Methylation
Seizures
Mutation
Genes
27 Citations (Scopus)

Serum neurofilament dynamics predicts neurodegeneration and clinical progression in presymptomatic Alzheimer’s disease

Dominantly Inherited Alzheimer Network, Feb 1 2019, In : Nature Medicine. 25, 2, p. 277-283 7 p.

Research output: Contribution to journalLetter

Asymptomatic Diseases
Intermediate Filaments
Alzheimer Disease
Light
Serum
1 Citation (Scopus)

Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight

Ebbert, M. T. W., Jensen, T. D., Jansen-West, K., Sens, J. P., Reddy, J. S., Ridge, P. G., Kauwe, J. S. K., Belzil, V., Pregent, L., Carrasquillo, M. M., Keene, D., Larson, E., Crane, P., Asmann, Y., Taner, N., Younkin, S. G., Ross, O. A., Rademakers, R. V., Petrucelli, L. & Fryer, J. D., May 20 2019, In : Genome biology. 20, 1, 97.

Research output: Contribution to journalArticle

Open Access
gene
Technology
Alzheimer disease
Genes
Alzheimer Disease
1 Citation (Scopus)

The influence of β-amyloid on [ 18 F]AV-1451 in semantic variant of primary progressive aphasia

Whitwell, J. L., Martin, P. R., Duffy, J. R., Clark, H., Machulda, M. M., Schwarz, C., Weigand, S. D., Sintini, I., Senjem, M. L., Taner, N., Botha, H., Utianski, R., Graff-Radford, J., Jones, D. T., Boeve, B. F., Knopman, D. S., Petersen, R. C., Jack, C. R. J., Lowe, V. & Josephs, K. A., Feb 12 2019, In : Neurology. 92, 7, p. e710-e722

Research output: Contribution to journalArticle

Primary Progressive Aphasia
Semantics
Amyloid
Alzheimer Disease
Temporal Lobe
2018
13 Citations (Scopus)

[18F]AV-1451 clustering of entorhinal and cortical uptake in Alzheimer's disease

Whitwell, J. L., Graff-Radford, J., Tosakulwong, N., Weigand, S. D., Machulda, M. M., Senjem, M. L., Schwarz, C., Spychalla, A. J., Jones, D. T., Drubach, D., Knopman, D. S., Boeve, B. F., Taner, N., Petersen, R. C., Lowe, V., Jack, C. R. J. & Josephs, K. A., Feb 1 2018, In : Annals of Neurology. 83, 2, p. 248-257 10 p.

Research output: Contribution to journalArticle

Cluster Analysis
Alzheimer Disease
Apolipoprotein E4
Entorhinal Cortex
Neocortex
2 Citations (Scopus)

ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans 11 Medical and Health Sciences 1109 Neurosciences 06 Biological Sciences 0604 Genetics

Conway, O. J., Carrasquillo, M. M., Wang, X., Bredenberg, J. M., Reddy, J. S., Strickland, S. L., Younkin, C. S., Burgess, J. D., Allen, M., Lincoln, S. J., Nguyen, T., Malphrus, K. G., Soto, A. I., Walton, R. L., Boeve, B. F., Petersen, R. C., Lucas, J. A., Ferman, T. J., Cheshire, W. P., Van Gerpen, J. A. & 6 others, Uitti, R. J., Wszolek, Z. K., Ross, O. A., Dickson, D. W., Graff Radford, N. R. & Taner, N., Oct 11 2018, In : Molecular Neurodegeneration. 13, 1, 53.

Research output: Contribution to journalArticle

Biological Science Disciplines
Neurosciences
Neurodegenerative Diseases
African Americans
Alzheimer Disease
2 Citations (Scopus)

An alternative transcript of the Alzheimer's disease risk gene SORL1 encodes a truncated receptor

Blechingberg, J., Poulsen, A. S. A., Kjølby, M., Monti, G., Allen, M., Ivarsen, A. K., Lincoln, S. J., Thotakura, G., Vægter, C. B., Taner, N., Nykjær, A. & Andersen, O. M., Jan 1 2018, (Accepted/In press) In : Neurobiology of Aging.

Research output: Contribution to journalArticle

Exons
Alzheimer Disease
Amyloid beta-Protein Precursor
Amino Acid Receptors
Genes
14 Citations (Scopus)

APOE ε4 is associated with severity of Lewy body pathology independent of Alzheimer pathology

Dickson, D. W., Heckman, M. G., Murray, M. E., Soto, A. I., Walton, R. L., Diehl, N. N., Van Gerpen, J. A., Uitti, R. J., Wszolek, Z. K., Taner, N., Knopman, D. S., Petersen, R. C., Graff Radford, N. R., Boeve, B. F., Bu, G. D., Ferman, T. J. & Ross, O. A., Sep 18 2018, In : Neurology. 91, 12, p. e1182-e1195

Research output: Contribution to journalArticle

Lewy Bodies
Pathology
Alzheimer Disease
Dementia
Odds Ratio
Neuroimaging
Hope
Alzheimer Disease
National Institute on Aging (U.S.)
National Institute of Neurological Disorders and Stroke
3 Citations (Scopus)

Divergent brain gene expression patterns associate with distinct cell-specific tau neuropathology traits in progressive supranuclear palsy

Allen, M., Wang, X., Serie, D. J., Strickland, S. L., Burgess, J. D., Koga, S., Younkin, C. S., Nguyen, T. T., Malphrus, K. G., Lincoln, S. J., Alamprese, M., Zhu, K., Chang, R., Carrasquillo, M. M., Kouri, N., Murray, M. E., Reddy, J. S., Funk, C., Price, N. D., Golde, T. E. & 5 others, Younkin, S. G., Asmann, Y., Crook, J., Dickson, D. W. & Taner, N., Jan 1 2018, (Accepted/In press) In : Acta Neuropathologica.

Research output: Contribution to journalArticle

Progressive Supranuclear Palsy
Gene Expression
Brain
Pathology
Coiled Bodies

Electroencephalogram findings in patients with posterior cortical atrophy

Goldstein, E. D., Taner, N., Stephens, A., Carrasquillo, M. M., Boeve, B. F., Tatum, W. O. & Feyissa, A., Jan 1 2018, (Accepted/In press) In : Neurologia i Neurochirurgia Polska.

Research output: Contribution to journalArticle

Atrophy
Electroencephalography
Alzheimer Disease
Scalp
Sample Size

Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease

International Genomics of Alzheimer's Project (IGAP), ARUK Consortium & GERAD/PERADES, CHARGE, ADGC, EADI, Jan 1 2018, In : Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring. 10, p. 595-598 4 p.

Research output: Contribution to journalArticle

Cholesterol Ester Transfer Proteins
HDL Cholesterol
Alzheimer Disease
Genes
Single Nucleotide Polymorphism
3 Citations (Scopus)

Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer's disease

Chung, J., Zhang, X., Allen, M., Wang, X., Ma, Y., Beecham, G., Montine, T. J., Younkin, S. G., Dickson, D. W., Golde, T. E., Price, N. D., Taner, N., Lunetta, K. L., Mez, J., Mayeux, R., Haines, J. L., Pericak-Vance, M. A., Schellenberg, G., Jun, G. R. & Farrer, L. A., Feb 20 2018, In : Alzheimer's Research and Therapy. 10, 1, 22.

Research output: Contribution to journalArticle

Neurofibrillary Tangles
Cerebral Amyloid Angiopathy
Alzheimer Disease
Genome
Amyloid Plaques

Identification of missing variants by combining multiple analytic pipelines

Ren, Y., Reddy, J. S., Pottier, C., Sarangi, V., Tian, S., Sinnwell, J. P., McDonnell, S. K., Biernacka, J. M., Carrasquillo, M. M., Ross, O. A., Taner, N., Rademakers, R. V., Hudson, M., Mainzer, L. S. & Asmann, Y., Apr 16 2018, In : BMC Bioinformatics. 19, 1, 139.

Research output: Contribution to journalArticle

Sample Size
Pipelines
Gene Frequency
Alzheimer Disease
Sequencing
11 Citations (Scopus)
Amyloid
Positron-Emission Tomography
Atrophy
Alzheimer Disease
Neuroimaging
5 Citations (Scopus)

Male-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer's disease

Genetic and Environmental Risk in Alzheimer's Disease 1 consortium (GERAD1), Alzheimer's Disease Genetics Consortium (ADGC) & The European Alzheimer Disease Initiative Investigators (EADI1 Consortium), Dec 1 2018, In : Neurobiology of Aging. 72, p. 188.e3-188.e12

Research output: Contribution to journalArticle

Alzheimer Disease
Genes
Single Nucleotide Polymorphism
Brain
Talin
11 Citations (Scopus)

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

Pottier, C., Zhou, X., Perkerson, R. B., Baker, M., Jenkins, G. D., Serie, D. J., Ghidoni, R., Benussi, L., Binetti, G., López de Munain, A., Zulaica, M., Moreno, F., Le Ber, I., Pasquier, F., Hannequin, D., Sánchez-Valle, R., Antonell, A., Lladó, A., Parsons, T. M., Finch, N. C. A. & 113 others, Finger, E. C., Lippa, C. F., Huey, E. D., Neumann, M., Heutink, P., Synofzik, M., Wilke, C., Rissman, R. A., Slawek, J., Sitek, E., Johannsen, P., Nielsen, J. E., Ren, Y., Van Blitterswijk, M., DeJesus-Hernandez, M., Christopher, E., Murray, M. E., Bieniek, K. F., Evers, B. M., Ferrari, C., Rollinson, S., Richardson, A., Scarpini, E., Fumagalli, G. G., Padovani, A., Hardy, J., Momeni, P., Ferrari, R., Frangipane, F., Maletta, R., Anfossi, M., Gallo, M., Petrucelli, L., Suh, E. R., Lopez, O. L., Wong, T. H., van Rooij, J. G. J., Seelaar, H., Mead, S., Caselli, R. J., Reiman, E. M., Noel Sabbagh, M., Kjolby, M., Nykjaer, A., Karydas, A. M., Boxer, A. L., Grinberg, L. T., Grafman, J., Spina, S., Oblak, A., Mesulam, M. M., Weintraub, S., Geula, C., Hodges, J. R., Piguet, O., Brooks, W. S., Irwin, D. J., Trojanowski, J. Q., Lee, E. B., Josephs, K. A., Parisi, J. E., Taner, N., Knopman, D. S., Nacmias, B., Piaceri, I., Bagnoli, S., Sorbi, S., Gearing, M., Glass, J., Beach, T. G., Black, S. E., Masellis, M., Rogaeva, E., Vonsattel, J. P., Honig, L. S., Kofler, J., Bruni, A. C., Snowden, J., Mann, D., Pickering-Brown, S., Diehl-Schmid, J., Winkelmann, J., Galimberti, D., Graff, C., Öijerstedt, L., Troakes, C., Al-Sarraj, S., Cruchaga, C., Cairns, N. J., Rohrer, J. D., Halliday, G. M., Kwok, J. B., van Swieten, J. C., White, C. L., Ghetti, B., Murell, J. R., Mackenzie, I. R. A., Hsiung, G. Y. R., Borroni, B., Rossi, G., Tagliavini, F., Wszolek, Z. K., Petersen, R. C., Bigio, E. H., Grossman, M., Van Deerlin, V. M., Seeley, W. W., Miller, B. L., Graff Radford, N. R., Boeve, B. F., Dickson, D. W., Biernacka, J. M. & Rademakers, R. V., Jun 1 2018, In : The Lancet Neurology. 17, 6, p. 548-558 11 p.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Inborn Genetic Diseases
Genome-Wide Association Study
Age of Onset
Meta-Analysis
10 Citations (Scopus)

Sex and age interact to determine clinicopathologic differences in Alzheimer’s disease

Liesinger, A. M., Graff Radford, N. R., Duara, R., Carter, R. E., Hanna Al-Shaikh, F. S., Koga, S., Hinkle, K. M., DiLello, S. K., Johnson, M. K. F., Aziz, A., Taner, N., Ross, O. A., Dickson, D. W. & Murray, M. E., Jan 1 2018, (Accepted/In press) In : Acta Neuropathologica.

Research output: Contribution to journalArticle

Alzheimer Disease
Neurofibrillary Tangles
Age of Onset
Autopsy
Neurobehavioral Manifestations
21 Citations (Scopus)

Sex-specific association of apolipoprotein e with cerebrospinal fluid levels of tau

Alzheimer's Disease Genetics Consortium and the Alzheimer's Disease Neuroimaging Initiative, Aug 1 2018, In : JAMA Neurology. 75, 8, p. 989-998 10 p.

Research output: Contribution to journalArticle

Apolipoproteins
Apolipoproteins E
Cerebrospinal Fluid
Alzheimer Disease
Neurofibrillary Tangles
10 Citations (Scopus)

Sex-specific genetic predictors of Alzheimer’s disease biomarkers

Alzheimer’s Disease Neuroimaging Initiative (ADNI) & The Alzheimer Disease Genetics Consortium (Adgc), Jul 2 2018, (Accepted/In press) In : Acta Neuropathologica. p. 1-16 16 p.

Research output: Contribution to journalArticle

Alzheimer Disease
Biomarkers
Genome-Wide Association Study
Amyloid
Endophenotypes

Target-enriched sequencing of chromosome 17q21.31 in sporadic tauopathies reveals no candidate variants

Razquin, C., Ortega-Cubero, S., Rojo-Bustamante, E., Diez-Fairen, M., Lorenzo, E., Alonso, E., Ezquerra, M., Ross, O. A., Carcel, M., Lorenzo-Betancor, O., Soto, A. I., Burgess, J. D., Taner, N., Dickson, D. W., Pastor, M. A., Tolosa, E. & Pastor, P., Jan 1 2018, (Accepted/In press) In : Neurobiology of Aging.

Research output: Contribution to journalArticle

Tauopathies
Progressive Supranuclear Palsy
Chromosomes
Chromosomes, Human, Pair 17
Healthy Volunteers
6 Citations (Scopus)

TLR5 decoy receptor as a novel anti-amyloid therapeutic for Alzheimer's disease

Chakrabarty, P., Li, A., Ladd, T. B., Strickland, M. R., Koller, E. J., Burgess, J. D., Funk, C. C., Cruz, P. E., Allen, M., Yaroshenko, M., Wang, X., Younkin, C., Reddy, J., Lohrer, B., Mehrke, L., Moore, B. D., Liu, X., Ceballos‑Diaz, C., Rosario, A. M., Medway, C. & 8 others, Janus, C., Li, H. D., Dickson, D. W., Giasson, B. I., Price, N. D., Younkin, S. G., Taner, N. & Golde, T. E., Jan 1 2018, In : Journal of Experimental Medicine. 215, 9, p. 2247-2264 18 p.

Research output: Contribution to journalArticle

Toll-Like Receptor 5
Amyloid
Alzheimer Disease
Therapeutics
Flagellin
1 Citation (Scopus)

TMEM106B haplotypes have distinct gene expression patterns in aged brain

Ren, Y., Van Blitterswijk, M., Allen, M., Carrasquillo, M. M., Reddy, J. S., Wang, X., Beach, T. G., Dickson, D. W., Taner, N., Asmann, Y. & Rademakers, R. V., Jul 3 2018, In : Molecular Neurodegeneration. 13, 1, 35.

Research output: Contribution to journalArticle

Haplotypes
Temporal Lobe
Gene Expression
Cerebellum
Brain
2017
4 Citations (Scopus)

African American exome sequencing identifies potential risk variants at Alzheimer disease loci

N'songo, A., Carrasquillo, M. M., Wang, X., Burgess, J. D., Nguyen, T., Asmann, Y., Serie, D. J., Younkin, S. G., Allen, M., Pedraza, O. D., Duara, R., Custo, M. T. G., Graff Radford, N. R. & Taner, N., Jan 1 2017, In : Neurology: Genetics. 3, 2, e141.

Research output: Contribution to journalArticle

Exome
African Americans
Alzheimer Disease
Genome-Wide Association Study
Endophenotypes

Approach to the patient with dementia

Taner, N. & Graff Radford, N. R., Jan 6 2017, Practical Neurology: Fifth Edition. Wolters Kluwer Health Pharma Solutions (Europe) Ltd, p. 35-49 15 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Dementia
1 Citation (Scopus)

Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer's Disease Genes in African Americans Identifies Novel PSEN Variants

N'Songo, A., Carrasquillo, M. M., Wang, X., Nguyen, T., Asmann, Y., Younkin, S. G., Allen, M., Duara, R., Custo, M. T. G., Graff Radford, N. R. & Taner, N., 2017, In : Journal of Alzheimer's Disease. 56, 4, p. 1215-1222 8 p.

Research output: Contribution to journalArticle

African Americans
Alzheimer Disease
Genes
Exome
Population
8 Citations (Scopus)

Conserved brain myelination networks are altered in Alzheimer's and other neurodegenerative diseases

Allen, M., Wang, X., Burgess, J. D., Watzlawik, J., Serie, D. J., Younkin, C. S., Nguyen, T., Malphrus, K. G., Lincoln, S., Carrasquillo, M. M., Ho, C., Chakrabarty, P., Strickland, S., Murray, M. E., Swarup, V., Geschwind, D. H., Seyfried, N. T., Dammer, E. B., Lah, J. J., Levey, A. I. & 11 others, Golde, T. E., Funk, C., Li, H., Price, N. D., Petersen, R. C., Graff Radford, N. R., Younkin, S. G., Dickson, D. W., Crook, J., Asmann, Y. & Taner, N., Jan 1 2017, (Accepted/In press) In : Alzheimer's and Dementia.

Research output: Contribution to journalArticle

Neurodegenerative Diseases
Alzheimer Disease
Brain
Temporal Lobe
Gene Regulatory Networks
1 Citation (Scopus)

Identifying therapeutic targets for Alzheimer's disease with big data

Taner, N., Apr 1 2017, In : Neurodegenerative disease management. 7, 2, p. 101-105 5 p.

Research output: Contribution to journalArticle

Alzheimer Disease
Neurology
Endophenotypes
Therapeutics
Neurosciences
10 Citations (Scopus)

Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience

for the Alzheimer's Disease Neuroimaging Initative, Nov 29 2017, In : Genome Medicine. 9, 1, 100.

Research output: Contribution to journalArticle

Alzheimer Disease
Genome
Single Nucleotide Polymorphism
Pedigree
Odds Ratio
174 Citations (Scopus)

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Sims, R., Van Der Lee, S. J., Naj, A. C., Bellenguez, C., Badarinarayan, N., Jakobsdottir, J., Kunkle, B. W., Boland, A., Raybould, R., Bis, J. C., Martin, E. R., Grenier-Boley, B., Heilmann-Heimbach, S., Chouraki, V., Kuzma, A. B., Sleegers, K., Vronskaya, M., Ruiz, A., Graham, R. R., Olaso, R. & 429 others, Hoffmann, P., Grove, M. L., Vardarajan, B. N., Hiltunen, M., Nöthen, M. M., White, C. C., Hamilton-Nelson, K. L., Epelbaum, J., Maier, W., Choi, S. H., Beecham, G. W., Dulary, C., Herms, S., Smith, A. V., Funk, C. C., Derbois, C., Forstner, A. J., Ahmad, S., Li, H., Bacq, D., Harold, D., Satizabal, C. L., Valladares, O., Squassina, A., Thomas, R., Brody, J. A., Qu, L., Sánchez-Juan, P., Morgan, T., Wolters, F. J., Zhao, Y., Garcia, F. S., Denning, N., Fornage, M., Malamon, J., Naranjo, M. C. D., Majounie, E., Mosley, T. H., Dombroski, B., Wallon, D., Lupton, M. K., Dupuis, J., Whitehead, P., Fratiglioni, L., Medway, C., Jian, X., Mukherjee, S., Keller, L., Brown, K., Lin, H., Cantwell, L. B., Panza, F., McGuinness, B., Moreno-Grau, S., Burgess, J. D., Solfrizzi, V., Proitsi, P., Adams, H. H., Allen, M., Seripa, D., Pastor, P., Cupples, L. A., Price, N. D., Hannequin, D., Frank-García, A., Levy, D., Chakrabarty, P., Caffarra, P., Giegling, I., Beiser, A. S., Giedraitis, V., Hampel, H., Garcia, M. E., Wang, X., Lannfelt, L., Mecocci, P., Eiriksdottir, G., Crane, P. K., Pasquier, F., Boccardi, V., Henández, I., Barber, R. C., Scherer, M., Tarraga, L., Adams, P. M., Leber, M., Chen, Y., Albert, M. S., Riedel-Heller, S., Emilsson, V., Beekly, D., Braae, A., Schmidt, R., Blacker, D., Masullo, C., Schmidt, H., Doody, R. S., Spalletta, G., Jr, W. T. L., Fairchild, T. J., Bossù, P., Lopez, O. L., Frosch, M. P., Sacchinelli, E., Ghetti, B., Yang, Q., Huebinger, R. M., Jessen, F., Li, S., Kamboh, M. I., Morris, J., Sotolongo-Grau, O., Katz, M. J., Corcoran, C., Dunstan, M., Braddel, A., Thomas, C., Meggy, A., Marshall, R., Gerrish, A., Chapman, J., Aguilar, M., Taylor, S., Hill, M., Fairén, M. D., Hodges, A., Vellas, B., Soininen, H., Kloszewska, I., Daniilidou, M., Uphill, J., Patel, Y., Hughes, J. T., Lord, J., Turton, J., Hartmann, A. M., Cecchetti, R., Fenoglio, C., Serpente, M., Arcaro, M., Caltagirone, C., Orfei, M. D., Ciaramella, A., Pichler, S., Mayhaus, M., Gu, W., Lleó, A., Fortea, J., Blesa, R., Barber, I. S., Brookes, K., Cupidi, C., Maletta, R. G., Carrell, D., Sorbi, S., Moebus, S., Urbano, M., Pilotto, A., Kornhuber, J., Bosco, P., Todd, S., Craig, D., Johnston, J., Gill, M., Lawlor, B., Lynch, A., Fox, N. C., Hardy, J., Albin, R. L., Apostolova, L. G., Arnold, S. E., Asthana, S., Atwood, C. S., Baldwin, C. T., Barnes, L. L., Barral, S., Beach, T. G., Becker, J. T., Bigio, E. H., Bird, T. D., Boeve, B. F., Bowen, J. D., Boxer, A., Burke, J. R., Burns, J. M., Buxbaum, J. D., Cairns, N. J., Cao, C., Carlson, C. S., Carlsson, C. M., Carney, R. M., Carrasquillo, M. M., Carroll, S. L., Diaz, C. C., Chui, H. C., Clark, D. G., Cribbs, D. H., Crocco, E. A., Decarli, C., Dick, M., Duara, R., Evans, D. A., Faber, K. M., Fallon, K. B., Fardo, D. W., Farlow, M. R., Ferris, S., Foroud, T. M., Galasko, D. R., Gearing, M., Geschwind, D. H., Gilbert, J. R., Graff Radford, N. R., Green, R. C., Growdon, J. H., Hamilton, R. L., Harrell, L. E., Honig, L. S., Huentelman, M. J., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Abner, E., Jin, L. W., Jun, G., Karydas, A., Kaye, J. A., Kim, R., Kowall, N. W., Kramer, J. H., Laferla, F. M., Lah, J. J., Leverenz, J. B., Levey, A. I., Li, G., Lieberman, A. P., Lunetta, K. L., Lyketsos, C. G., Marson, D. C., Martiniuk, F., Mash, D. C., Masliah, E., McCormick, W. C., McCurry, S. M., McDavid, A. N., McKee, A. C., Mesulam, M., Miller, B. L., Miller, C. A., Miller, J. W., Morris, J. C., Murrell, J. R., Myers, A. J., O'Bryant, S., Olichney, J. M., Parisi, J. E., Parisi, J. E., Paulson, H. L., Perry, W., Peskind, E., Pierce, A., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Raskind, M., Reisberg, B., Reitz, C., Ringman, J. M., Roberson, E. D., Rogaeva, E., Rosen, H. J., Rosenberg, R. N., Sager, M. A., Saykin, A. J., Schneider, J. A., Schneider, L. S., Seeley, W. W., Smith, A. G., Sonnen, J. A., Spina, S., Stern, R. A., Swerdlow, R. H., Tanzi, R. E., Thornton-Wells, T. A., Trojanowski, J. Q., Troncoso, J. C., Van Deerlin, V. M., Van Eldik, L. J., Vinters, H. V., Vonsattel, J. P., Weintraub, S., Welsh-Bohmer, K. A., Wilhelmsen, K. C., Williamson, J., Wingo, T. S., Woltjer, R. L., Wright, C. B., Yu, C. E., Yu, L., Garzia, F., Golamaully, F., Septier, G., Engelborghs, S., Vandenberghe, R., De Deyn, P. P., Fernadez, C. M., Benito, Y. A., Thonberg, H., Forsell, C., Lilius, L., Kinhult-Stählbom, A., Kilander, L., Brundin, R., Concari, L., Helisalmi, S., Koivisto, A. M., Haapasalo, A., Dermecourt, V., Fievet, N., Hanon, O., Dufouil, C., Brice, A., Ritchie, K., Dubois, B., Himali, J. J., Keene, C. D., Tschanz, J., Fitzpatrick, A. L., Kukull, W. A., Norton, M., Aspelund, T., Larson, E. B., Munger, R., Rotter, J. I., Lipton, R. B., Bullido, M. J., Hofman, A., Montine, T. J., Coto, E., Petersen, R. C., Petersen, R. C., Alvarez, V., Rivadeneira, F., Reiman, E. M., Gallo, M., O'Donnell, C. J., Reisch, J. S., Bruni, A. C., Royall, D. R., Dichgans, M., Sano, M., Galimberti, D., St George-Hyslop, P., Scarpini, E., Tsuang, D. W., Mancuso, M., Bonuccelli, U., Winslow, A. R., Daniele, A., Wu, C. K., Peters, O., Nacmias, B., Riemenschneider, M., Heun, R., Brayne, C., Rubinsztein, D. C., Bras, J., Guerreiro, R., Al-Chalabi, A., Shaw, C. E., Collinge, J., Mann, D., Tsolaki, M., Clarimón, J., Sussams, R., Lovestone, S., O'Donovan, M. C., Owen, M. J., Behrens, T. W., Mead, S., Goate, A. M., Uitterlinden, A. G., Holmes, C., Cruchaga, C., Ingelsson, M., Bennett, D. A., Powell, J., Golde, T. E., Taner, N., De Jager, P. L., Morgan, K., Ertekin-Taner, N., Younkin, S. G., Psaty, B. M., Passmore, P., Younkin, S. G., Dickson, D. W., Gudnason, V., Rujescu, D., Dickson, D. W., Dartigues, J. F., Destefano, A. L., Ortega-Cubero, S., Hakonarson, H., Campion, D., Boada, M., Kauwe, J. K., Farrer, L. A., Van Broeckhoven, C., Ikram, M. A., Jones, L., Haines, J. L., Tzourio, C., Launer, L. J., Escott-Price, V., Mayeux, R., Deleuze, J. F., Amin, N., Holmans, P. A., Pericak-Vance, M. A., Amouyel, P., Van Duijn, C. M., Ramirez, A., Wang, L. S., Lambert, J. C., Seshadri, S., Williams, J. & Schellenberg, G. D., Sep 1 2017, In : Nature Genetics. 49, 9, p. 1373-1384 12 p.

Research output: Contribution to journalArticle

Innate Immunity
Gene Frequency
Alzheimer Disease
Odds Ratio
Microglia
14 Citations (Scopus)

Systems biology approach to late-onset Alzheimer's disease genome-wide association study identifies novel candidate genes validated using brain expression data and Caenorhabditis elegans experiments

Mukherjee, S., Russell, J. C., Carr, D. T., Burgess, J. D., Allen, M., Serie, D. J., Boehme, K. L., Kauwe, J. S. K., Naj, A. C., Fardo, D. W., Dickson, D. W., Montine, T. J., Taner, N., Kaeberlein, M. R. & Crane, P. K., 2017, (Accepted/In press) In : Alzheimer's and Dementia.

Research output: Contribution to journalArticle

Systems Biology
Genome-Wide Association Study
Caenorhabditis elegans
Alzheimer Disease
Brain
31 Citations (Scopus)

Transethnic genome-wide scan identifies novel Alzheimer's disease loci

Jun, G. R., Chung, J., Mez, J., Barber, R., Beecham, G. W., Bennett, D. A., Buxbaum, J. D., Byrd, G. S., Carrasquillo, M. M., Crane, P. K., Cruchaga, C., De Jager, P., Ertekin-Taner, N., Evans, D., Fallin, M. D., Foroud, T. M., Friedland, R. P., Goate, A. M., Carrasquillo, M. M., Taner, N. & 31 others, Graff Radford, N. R., Younkin, S. G., Inzelberg, R., Kamboh, M. I., Kauwe, J. S. K., Kukull, W. A., Kunkle, B. W., Kuwano, R., Larson, E. B., Logue, M. W., Manly, J. J., Martin, E. R., Montine, T. J., Mukherjee, S., Naj, A., Reiman, E. M., Reitz, C., Sherva, R., St. George-Hyslop, P. H., Thornton, T., Younkin, S. G., Vardarajan, B. N., Wang, L. S., Wendlund, J. R., Winslow, A. R., Haines, J., Mayeux, R., Pericak-Vance, M. A., Schellenberg, G., Lunetta, K. L. & Petersen, R. C., 2017, (Accepted/In press) In : Alzheimer's and Dementia.

Research output: Contribution to journalArticle

Alzheimer Disease
Genome
Single Nucleotide Polymorphism
Genome-Wide Association Study
Genetic Loci
17 Citations (Scopus)

Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans

Alzheimer's Disease Genetics Consortium, Feb 1 2017, In : Alzheimer's and Dementia. 13, 2, p. 119-129 11 p.

Research output: Contribution to journalArticle

African Americans
Genome-Wide Association Study
Alzheimer Disease
Single Nucleotide Polymorphism
Genome
2016
9 Citations (Scopus)

ABCA7 loss-of-function variants, expression, and neurologic disease risk

Allen, M., Lincoln, S. J., Corda, M., Watzlawik, J. O., Carrasquillo, M. M., Reddy, J. S., Burgess, J. D., Nguyen, T., Malphrus, K., Petersen, R. C., Graff Radford, N. R., Dickson, D. W. & Taner, N., Jan 1 2016, In : Neurology: Genetics. 3, 1, e126.

Research output: Contribution to journalArticle

Nervous System Diseases
Adenosine Triphosphate
Alzheimer Disease
Messenger RNA
Proteins
18 Citations (Scopus)

A candidate regulatory variant at the TREM gene cluster associates with decreased Alzheimer's disease risk and increased TREML1 and TREM2 brain gene expression

Carrasquillo, M. M., Allen, M., Burgess, J. D., Wang, X., Strickland, S. L., Aryal, S., Siuda, J., Kachadoorian, M. L., Medway, C., Younkin, C. S., Nair, A., Wang, C., Chanana, P., Serie, D., Nguyen, T., Lincoln, S., Malphrus, K. G., Morgan, K., Golde, T. E., Price, N. D. & 10 others, White, C. C., De Jager, P. L., Bennett, D. A., Asmann, Y., Crook, J., Petersen, R. C., Graff Radford, N. R., Dickson, D. W., Younkin, S. G. & Taner, N., 2016, (Accepted/In press) In : Alzheimer's and Dementia.

Research output: Contribution to journalArticle

Multigene Family
Alzheimer Disease
Quantitative Trait Loci
Gene Expression
Meta-Analysis
30 Citations (Scopus)

Alzheimer's disease risk polymorphisms regulate gene expression in the ZCWPW1 and the CELF1 loci

Alzheimer's Disease Genetics Consortium (ADGC), Feb 1 2016, In : PLoS One. 11, 2, e0148717.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Alzheimer disease
Polymorphism
Gene expression
Alzheimer Disease
18 Citations (Scopus)

Assessment of the genetic variance of late-onset Alzheimer's disease

Alzheimer's Disease Genetics Consortium (ADGC), May 1 2016, In : Neurobiology of Aging. 41, p. 200.e13-200.e20

Research output: Contribution to journalArticle

Alzheimer Disease
Single Nucleotide Polymorphism
Inborn Genetic Diseases
Amyloid beta-Protein Precursor
Myeloid Cells

Corrigendum to “Genome-wide association interaction analysis for Alzheimer's disease.” [Neurobiol. Aging (2014) 35 (2436–2443)] (S0197458014003777)(10.1016/j.neurobiolaging.2014.05.014)

Gusareva, E. S., Carrasquillo, M. M., Bellenguez, C., Cuyvers, E., Colon, S., Graff Radford, N. R., Petersen, R. C., Dickson, D. W., Mahachie John, J. M., Bessonov, K., Van Broeckhoven, C., Ramirez, A., Harold, D., Williams, J., Amouyel, P., Sleegers, K., Taner, N., Lambert, J. C. & Van Steen, K., Jan 1 2016, In : Neurobiology of Aging. 37, p. 211 1 p.

Research output: Contribution to journalComment/debate

Genome-Wide Association Study
Germany
Psychiatry
Alzheimer Disease
corrigendum
10 Citations (Scopus)

Evaluating pathogenic dementia variants in posterior cortical atrophy

Carrasquillo, M. M., Barber, I., Lincoln, S. J., Murray, M. E., Camsari, G. B., Khan, Q. U. A., Nguyen, T., Ma, L., Bisceglio, G. D., Crook, J., Younkin, S. G., Dickson, D. W., Boeve, B. F., Graff Radford, N. R., Morgan, K. & Taner, N., 2016, In : Neurobiology of Aging. 37, p. 38-44 7 p.

Research output: Contribution to journalArticle

Atrophy
Dementia
Exome
Alzheimer Disease
Genes
18 Citations (Scopus)

Expression and processing analyses of wild type and p.R47H TREM2 variant in Alzheimer's disease brains

Ma, L., Allen, M., Sakae, N., Taner, N., Graff Radford, N. R., Dickson, D. W., Younkin, S. G. & Sevlever, D., Nov 25 2016, In : Molecular Neurodegeneration. 11, 1, p. 1-9 9 p.

Research output: Contribution to journalArticle

Myeloid Cells
Alzheimer Disease
Brain
Proteins
RNA Isoforms
18 Citations (Scopus)

Gene expression, methylation and neuropathology correlations at progressive supranuclear palsy risk loci

Allen, M., Burgess, J. D., Ballard, T., Serie, D., Wang, X., Younkin, C. S., Sun, Z. D., Kouri, N., Baheti, S., Wang, C., Carrasquillo, M. M., Nguyen, T., Lincoln, S., Malphrus, K., Murray, M. E., Golde, T. E., Price, N. D., Younkin, S. G., Schellenberg, G. D., Asmann, Y. & 4 others, Ordog, T., Crook, J., Dickson, D. W. & Taner, N., Apr 26 2016, (Accepted/In press) In : Acta Neuropathologica. p. 1-15 15 p.

Research output: Contribution to journalArticle

Progressive Supranuclear Palsy
Methylation
Gene Expression
Coiled Bodies
Single Nucleotide Polymorphism
25 Citations (Scopus)

Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease

Schott, J. M., Crutch, S. J., Carrasquillo, M. M., Uphill, J., Shakespeare, T. J., Ryan, N. S., Yong, K. X., Lehmann, M., Taner, N., Graff Radford, N. R., Boeve, B. F., Murray, M. E., Khan, Q. U. A., Petersen, R. C., Dickson, D. W., Knopman, D. S., Rabinovici, G. D., Miller, B. L., González, A. S., Gil-Néciga, E. & 24 others, Snowden, J. S., Harris, J., Pickering-Brown, S. M., Louwersheimer, E., van der Flier, W. M., Scheltens, P., Pijnenburg, Y. A., Galasko, D., Sarazin, M., Dubois, B., Magnin, E., Galimberti, D., Scarpini, E., Cappa, S. F., Hodges, J. R., Halliday, G. M., Bartley, L., Carrillo, M. C., Bras, J. T., Hardy, J., Rossor, M. N., Collinge, J., Fox, N. C. & Mead, S., Aug 1 2016, In : Alzheimer's and Dementia. 12, 8, p. 862-871 10 p.

Research output: Contribution to journalArticle

Atrophy
Alzheimer Disease
Odds Ratio
Genome-Wide Association Study
32 Citations (Scopus)

Human whole genome genotype and transcriptome data for Alzheimer's and other neurodegenerative diseases

Allen, M., Carrasquillo, M. M., Funk, C., Heavner, B. D., Zou, F., Younkin, C. S., Burgess, J. D., Chai, H. S., Crook, J., Eddy, J. A., Li, H., Logsdon, B., Peters, M. A., Dang, K. K., Wang, X., Serie, D., Wang, C., Nguyen, T., Lincoln, S., Malphrus, K. & 11 others, Bisceglio, G., Li, M., Golde, T. E., Mangravite, L. M., Asmann, Y., Price, N. D., Petersen, R. C., Graff Radford, N. R., Dickson, D. W., Younkin, S. G. & Taner, N., Oct 11 2016, In : Scientific data. 3, 160089.

Research output: Contribution to journalArticle

Neurodegenerative diseases
Genotype
Brain
Genome
Genes
13 Citations (Scopus)

LRRK2 variation and dementia with Lewy bodies

Heckman, M. G., Soto-Ortolaza, A. I., Sanchez Contreras, M. Y., Murray, M. E., Pedraza, O. D., Diehl, N. N., Walton, R., Labbé, C., Lorenzo-Betancor, O., Uitti, R. J., Van Gerpen, J. A., Taner, N., Smith, G. E., Kantarci, K. M., Savica, R., Jones, D. T., Graff-Radford, J., Knopman, D. S., Lowe, V., Jack, C. R. J. & 9 others, Petersen, R. C., Parisi, J. E., Rademakers, R. V., Wszolek, Z. K., Graff Radford, N. R., Ferman, T. J., Dickson, D. W., Boeve, B. F. & Ross, O. A., Oct 1 2016, In : Parkinsonism and Related Disorders. 31, p. 98-103 6 p.

Research output: Contribution to journalArticle

Lewy Body Disease
Leucine
Phosphotransferases
Parkinson Disease
Haplotypes
13 Citations (Scopus)

MAPT haplotype H1G is associated with increased risk of dementia with Lewy bodies

Labbé, C., Heckman, M. G., Lorenzo-Betancor, O., Soto-Ortolaza, A. I., Walton, R. L., Murray, M. E., Allen, M., Uitti, R. J., Wszolek, Z. K., Smith, G. E., Kantarci, K. M., Knopman, D. S., Lowe, V., Jack, C. R. J., Taner, N., Hassan, A., Savica, R., Petersen, R. C., Parisi, J. E., Maraganore, D. M. & 5 others, Graff Radford, N. R., Ferman, T. J., Boeve, B. F., Dickson, D. W. & Ross, O. A., 2016, (Accepted/In press) In : Alzheimer's and Dementia.

Research output: Contribution to journalArticle

Lewy Body Disease
Haplotypes
Odds Ratio
Neurodegenerative Diseases
Single Nucleotide Polymorphism
9 Citations (Scopus)

RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies

Hodges, K., Brewer, S. S., Labbé, C., Soto-Ortolaza, A. I., Walton, R. L., Strongosky, A. J., Uitti, R. J., Van Gerpen, J. A., Taner, N., Kantarci, K. M., Lowe, V., Parisi, J. E., Savica, R., Graff-Radford, J., Jones, D. T., Knopman, D. S., Petersen, R. C., Murray, M. E., Graff Radford, N. R., Ferman, T. J. & 5 others, Dickson, D. W., Wszolek, Z. K., Boeve, B. F., Ross, O. A. & Lorenzo-Betancor, O., Sep 1 2016, In : Neurobiology of Aging. 45, p. 107-108 2 p.

Research output: Contribution to journalArticle

Lewy Body Disease
Parkinson Disease
Mutation
Genes
ras Proteins